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NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) AND Myelodysplastic syndrome progressed to acute myeloid leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 8, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000203461.2

Allele description [Variation Report for NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)]

NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)

Gene:
NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
HGVS:
  • NC_000005.10:g.171410540_171410543dup
  • NG_016018.1:g.27837_27840dup
  • NM_001355006.2:c.860_863dup
  • NM_001355007.2:c.668_671dup
  • NM_001355010.2:c.479_482dup
  • NM_002520.7:c.860_863dupMANE SELECT
  • NM_199185.4:c.773_776dup
  • NP_001341935.1:p.Trp288fs
  • NP_001341936.1:p.Trp224fs
  • NP_001341939.1:p.Trp161fs
  • NP_002511.1:p.Trp288fs
  • NP_954654.1:p.Trp259fs
  • LRG_458t1:c.860_863dup
  • LRG_458:g.27837_27840dup
  • NC_000005.9:g.170837544_170837547dup
  • NM_002520.6:c.860_863dupTCTG
  • NR_149149.2:n.832_835dup
  • p.W288Cfs*12
Note:
NCBI staff reviewed the sequence information reported in PubMed 15659725 Fig. 4 to determine the location of this allele on the current reference sequence.
Protein change:
W161fs
Links:
OMIM: 164040.0001; dbSNP: rs587776806
NCBI 1000 Genomes Browser:
rs587776806
Molecular consequence:
  • NM_001355006.2:c.860_863dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355007.2:c.668_671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355010.2:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002520.7:c.860_863dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199185.4:c.773_776dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_149149.2:n.832_835dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myelodysplastic syndrome progressed to acute myeloid leukemia
Identifiers:
MedGen: CN234857

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258461Hospital of the University of Pennsylvania, Center for Personalized Diagnostics
criteria provided, single submitter

(Assertion_Criteria_HUP)		Pathogenic
(Jan 8, 2016) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Assertion_Criteria_HUP.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Favorable prognostic impact of NPM1 mutations in older patients with cytogenetically normal de novo acute myeloid leukemia and associated gene- and microRNA-expression signatures: a Cancer and Leukemia Group B study.

Becker H, Marcucci G, Maharry K, Radmacher MD, Mrózek K, Margeson D, Whitman SP, Wu YZ, Schwind S, Paschka P, Powell BL, Carter TH, Kolitz JE, Wetzler M, Carroll AJ, Baer MR, Caligiuri MA, Larson RA, Bloomfield CD.

J Clin Oncol. 2010 Feb 1;28(4):596-604. doi: 10.1200/JCO.2009.25.1496. Epub 2009 Dec 21.

PubMed [citation]
PMID:
20026798
PMCID:
PMC2815994

Details of each submission

From Hospital of the University of Pennsylvania, Center for Personalized Diagnostics, SCV000258461.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Usually associated with favorable prognosis in AML unless a concomitant FLT3-ITD mutation is also present

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023